Variant report

Variant	rs12623273
Chromosome Location	chr2:54145363-54145364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54144663..54146823-chr2:54147898..54150124,2	K562	blood:
2	chr2:54145281..54148173-chr2:54197251..54198835,2	MCF-7	breast:
3	chr2:54138008..54141282-chr2:54142096..54146757,4	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10432674	0.90[ASN][1000 genomes]
rs12162342	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12162343	0.93[ASN][1000 genomes]
rs12614854	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620383	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12621783	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12623380	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547980	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17045337	0.90[ASN][1000 genomes]
rs17045370	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17045386	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17045435	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2068017	0.93[ASN][1000 genomes]
rs2293361	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28396307	0.90[ASN][1000 genomes]
rs3213775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731972	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731973	0.90[ASN][1000 genomes]
rs3770389	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3821078	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850347	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58879065	0.82[AMR][1000 genomes]
rs6713523	0.91[ASN][1000 genomes]
rs6720298	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72799239	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72799248	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72799250	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72799257	0.98[ASN][1000 genomes]
rs72799259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72799268	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7580916	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805371	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9309252	0.88[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54124400-54159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:54127000-54156000	Weak transcription	Pancreas	Pancrea
10	chr2:54128000-54145400	Weak transcription	Ovary	ovary
11	chr2:54129000-54157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:54130400-54146600	Weak transcription	Small Intestine	intestine
13	chr2:54133000-54145400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:54133000-54151800	Weak transcription	Psoas Muscle	Psoas
15	chr2:54133000-54153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:54133000-54157800	Weak transcription	Colonic Mucosa	Colon
17	chr2:54133200-54154800	Weak transcription	Aorta	Aorta
18	chr2:54133400-54145600	Weak transcription	Esophagus	oesophagus
19	chr2:54133400-54150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:54133400-54151800	Weak transcription	Lung	lung
21	chr2:54133400-54154800	Weak transcription	Spleen	Spleen
22	chr2:54133600-54151800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:54133600-54152000	Weak transcription	Right Ventricle	heart
24	chr2:54133800-54145400	Weak transcription	Thymus	Thymus
25	chr2:54135000-54148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:54135000-54149400	Weak transcription	NHLF	lung
27	chr2:54135200-54146200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:54135200-54147400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:54135400-54146200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:54135600-54145600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:54135600-54146600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
33	chr2:54137200-54146600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:54137800-54145600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:54137800-54146400	Weak transcription	HSMMtube	muscle
36	chr2:54139200-54148400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:54139400-54153600	Weak transcription	Gastric	stomach
40	chr2:54139400-54158400	Strong transcription	A549	lung
41	chr2:54139400-54167200	Strong transcription	Liver	Liver
42	chr2:54139400-54167800	Strong transcription	Dnd41	blood
43	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:54140400-54146800	Strong transcription	Hela-S3	cervix
47	chr2:54141000-54146000	Strong transcription	Fetal Thymus	thymus
48	chr2:54141200-54146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:54141200-54147200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:54141200-54147600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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